13:40 - 15:10
Room: ANA Crowne Plaza “Ohtori” Room C
Workshop Session
Chair/s:
Koji Yasutomo, Warren Leonard
Genetics of familial inflammatory disorders
Koji Yasutomo
Tokushima University, Tokushima, Japan

Inflammatory disorders are caused by interplay between genetic and environmental factors. The genetic studies of familial diseases caused by single gene mutation could provide crucial information about molecular basis of human disorders. In that sense, we have tried to identify the causative genes for familial inflammtory disorders. We have identified NLRC4 as a causative gene for familial cold-induced autoinflammtory disorders. The mutation in NLRC4 facilitated the oligomer formation of NLRC4, which increased IL-1b production and pyroptosis. The transgenic mice in which mutant Nlrc4 is expressed under invariant chain promoter developed severe inflammatory responses. The inflammatory response were partly suppressed by deleting Il1b or Il18 gene. The prouction of IL-18 is largely dependant on IL-1b and IL-18 would be crucial for causing macophages activating syndrome. I would like to discuss the molecular mechanism of NLRC4-mediated diseases and other hereditary inflammatory disorders.


Reference:
Mo-WS5-1
Session:
Workshop 5, “Genetic disorders in cytokines and inflammation”
Presenter/s:
Koji Yasutomo
Presentation type:
Invited Speaker
Room:
ANA Crowne Plaza “Ohtori” Room C
Chair/s:
Koji Yasutomo, Warren Leonard
Date:
Monday, 30 October 2017
Time:
13:40 - 14:00
Session times:
13:40 - 15:10